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Genetic abnormalities in focal epilepsies are well known. A novel gene (DEPDC5) was identified, associated with various genotypes of epilepsies. Recently, DEPDC5 mutations were identified also inside focal cortical dysplasias. This could suggest that a somatic mutation in DEPDC5 could be responsible for the cortical dysplasia. The study aims to identify various genetic mutations responsible for drug-resistant focal epilepsies due to Focal cortical dysplasia in children undergoing surgery for epilepsies due to focal cortical dysplasias in Rothschild Foundation, Paris. Patients and their parents will be recruited to identify genetic abnormalities both in lymphocytic and cortical DNA.
Observational Model: Family-Based, Time Perspective: Cross-Sectional
Cortical Dysplasia-Focal Epilepsy Syndrome
search for genetic abnormalities
Fondation Ophtalmologique Adolphe de Rothschld
Fondation Ophtalmologique Adolphe de Rothschild
Published on BioPortfolio: 2016-09-07T16:23:21-0400
Focal cortical dysplasia (FCD) is a common finding in epilepsy surgery in pediatric patients. Children with intractable epilepsy would have extensive tests to identify the cause of epilep...
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To determine the relationship between seizure onset, sleep stage and focal cortical dysplasia type 2 (FCD2) location in sleep related epilepsy (SRE).
Type IIB focal cortical dysplasia (FCD) is an important cause of drug-resistant epilepsy. However, balloon cells located in the medial temporal lobe have been seldom reported. We aimed to discuss the ...
Focal cortical dysplasia (FCD) II is a frequently observed histopathological substrate in epilepsy surgery. In the present study, we explored the spatial distribution of epileptogenic activities acros...
Focal cortical dysplasias (FCD) are highly epileptogenic and are frequently associated with medically refractory focal epilepsy. FCD are frequently located in the frontal lobe rendering its complete r...
To localize the seizure onset zone (SOZ) and irritative zone (IZ) using electric source imaging (ESI) on intracranial EEG (iEEG) and assess their clinical value in predicting epilepsy surgery outcome ...
A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.
A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)
Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias.
Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.
Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal CELL PROLIFERATION or APOPTOSIS; abnormal neuronal migration; and abnormal establishment of cortical organization via neurite extension, synaptogenesis, or neuronal maturation. As well as mutations effecting these developmental processes directly, there are a variety of inborn metabolic errors, such as PEROXISOMAL DISORDERS and mitochondrial and pyruvate metabolic disorders which effect them secondarily and also exhibit these malformations. They are common causes of EPILEPSY and developmental delay and are often a component of multiple congenital anomalies.
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Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...